Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis

[Introduction] Currently, strategies for improving alpha1 antitrypsin deficiency (AATD) diagnosis are needed. Here we report the performance of a multinational multiplex-based genotyping test on dried blood spots and buccal swabs sent by post or courier and with web registration for subjects with su...

Descripción completa

Detalles Bibliográficos
Autores: López-Campos, J. L., Osaba, Lourdes, Czischke, Karen, Jardim, José R., Fernández Acquier, Mariano, Ali, Abraham, Günen, Hakan, Rapun, Noelia, Drobnic, Estrella, Miravitlles, Marc
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/305816
Acceso en línea:http://hdl.handle.net/10261/305816
https://api.elsevier.com/content/abstract/scopus_id/85131760855
Access Level:acceso abierto
Palabra clave:Alpha1 antitrypsin deficiency
Buccal swab
Diagnosis
Dried blood spots
Genotyping
Descripción
Sumario:[Introduction] Currently, strategies for improving alpha1 antitrypsin deficiency (AATD) diagnosis are needed. Here we report the performance of a multinational multiplex-based genotyping test on dried blood spots and buccal swabs sent by post or courier and with web registration for subjects with suspected AATD in Argentina, Brazil, Chile, Colombia, Spain, and Turkey.

Similares en LA Referencia